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mutLBSgeneDB |
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| Gene summary for CYP1B1 |
 Gene summary |
| Basic gene Info. | Gene symbol | CYP1B1 |
| Gene name | cytochrome P450, family 1, subfamily B, polypeptide 1 | |
| Synonyms | CP1B|CYPIB1|GLC3A|P4501B1 | |
| Cytomap | UCSC genome browser: 2p22.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000104.3, | |
| Description | aryl hydrocarbon hydroxylasecytochrome P450 1B1cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)flavoprotein-linked monooxygenasemicrosomal monooxygenasexenobiotic monooxygenase | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 601771 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000138061 | ||
| HPRD : 03464 | ||
| Vega : OTTHUMG00000100970 | ||
| Protein | UniProt: Q16678 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CYP1B1 | |
| BioGPS: 1545 | ||
| Pathway | NCI Pathway Interaction Database: CYP1B1 | |
| KEGG: CYP1B1 | ||
| REACTOME: CYP1B1 | ||
| Pathway Commons: CYP1B1 | ||
| Context | iHOP: CYP1B1 | |
| ligand binding site mutation search in PubMed: CYP1B1 | ||
| UCL Cancer Institute: CYP1B1 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006805 | xenobiotic metabolic process | 22888116 | GO:0008202 | steroid metabolic process | 22888116 | GO:0008210 | estrogen metabolic process | 23821647 | GO:0019369 | arachidonic acid metabolic process | 15258110 | GO:0042572 | retinol metabolic process | 15258110 | GO:0042574 | retinal metabolic process | 15258110 | GO:0071407 | cellular response to organic cyclic compound | 23275542 |
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| Ligand binding site mutations for CYP1B1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | L480 | L482V | BRCA | 1 | D326 | D326N | LUAD | 1 | R468,C470 | R469W | STAD | 1 | I471 | E473K | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for CYP1B1 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | L480 | L482V | -1.433807 | D326 | D326N | -0.97902857 | R468 | R469W | -0.7036656 | C470 | R469W | -0.7036656 | I471 | E473K | -0.57705714 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for CYP1B1 from PDB |
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| Differential gene expression and gene-gene network for CYP1B1 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for CYP1B1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0020302 | Hydrophthalmos | 27 | Biomarker, GeneticVariation |
| umls:C0339573 | Glaucoma, Primary Open Angle | 19 | Biomarker, GeneticVariation |
| umls:C1458155 | Breast Neoplasms | 19 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0007137 | Carcinoma, Squamous Cell | 10 | Biomarker, GeneticVariation |
| umls:C0033578 | Prostatic Neoplasms | 5 | Biomarker, GeneticVariation, PostTranslationalModification |
| umls:C0024121 | Lung Neoplasms | 4 | Biomarker, GeneticVariation |
| umls:C0009404 | Colorectal Neoplasms | 4 | Biomarker, GeneticVariation |
| umls:C0344559 | Peters anomaly | 3 | Biomarker, GeneticVariation |
| umls:C0018800 | Cardiomegaly | 2 | Biomarker, Therapeutic |
| umls:C0919267 | Ovarian Neoplasms | 2 | Biomarker |
| umls:C0001430 | Adenoma | 2 | Biomarker, GeneticVariation |
| umls:C1961102 | Precursor Cell Lymphoblastic Leukemia-Lymphoma | 2 | Biomarker |
| umls:C0025202 | Melanoma | 1 | Biomarker |
| umls:C0026640 | Mouth Neoplasms | 1 | Biomarker |
| umls:C0009363 | Coloboma | 1 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| 22772 | R469W | Pathogenic | Germline | GeneReviews:NBK1135 MedGen:C0020302 OMIM:231300 Orphanet:ORPHA98976 Orphanet:ORPHA98977 |
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| Pharmacological information for CYP1B1 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Investigational | DB02342 | 2-Methoxyestradiol | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CYP1B1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | BHF | ALPHA-NAPHTHOFLAVONE | 3pm0 | A | D326 | HEM | HEME B | 3pm0 | A | R468 C470 I471 L480 |
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| Conservation information for LBS of CYP1B1 |
| Multiple alignments for Q16678 in multiple species |
| LBS | AA sequence | # species | Species | A133 | GGRSLAFGHYS | 2 | Mus musculus, Rattus norvegicus | A133 | GGRSMAFGHYS | 1 | Homo sapiens | A133 | NYQDLVFAPYG | 1 | Arabidopsis thaliana | A330 | TDIFGASQDTL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A330 | LNMFTAGTDTS | 1 | Arabidopsis thaliana | C470 | VGKRRCIGEEL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C470 | AGRRICAGLSL | 1 | Arabidopsis thaliana | D326 | PATITDIFGAS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D326 | KALLLNMFTAG | 1 | Arabidopsis thaliana | F134 | GRSLAFGHYSE | 2 | Mus musculus, Rattus norvegicus | F134 | GRSMAFGHYSE | 1 | Homo sapiens | F134 | YQDLVFAPYGH | 1 | Arabidopsis thaliana | F231 | SHNEEFGRTVG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F231 | TEMMALAGVFN | 1 | Arabidopsis thaliana | F268 | QLNRNFSNFIL | 1 | Homo sapiens | F268 | RLHKRFDAF-L | 1 | Arabidopsis thaliana | F268 | QLNRNFSNFVL | 1 | Mus musculus | F268 | QINRNFSNFVL | 1 | Rattus norvegicus | F394 | MRFSSFVPVTI | 1 | Homo sapiens | F394 | FRLHPPTPLSL | 1 | Arabidopsis thaliana | F394 | MRFSSFLPVTI | 1 | Mus musculus | F394 | MRFTSFLPVTL | 1 | Rattus norvegicus | F463 | SSVMIFSVGKR | 2 | Mus musculus, Rattus norvegicus | F463 | SRVMIFSVGKR | 1 | Homo sapiens | F463 | FELIPFGAGRR | 1 | Arabidopsis thaliana | G329 | ITDIFGASQDT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G329 | LLNMFTAGTDT | 1 | Arabidopsis thaliana | H401 | PVTIPHATTAN | 2 | Homo sapiens, Mus musculus | H401 | PLSLPHIASES | 1 | Arabidopsis thaliana | H401 | PVTLPHATTAN | 1 | Rattus norvegicus | I327 | ATITDIFGASQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I327 | ALLLNMFTAGT | 1 | Arabidopsis thaliana | I399 | FVPVTIPHATT | 1 | Homo sapiens | I399 | PTPLSLPHIAS | 1 | Arabidopsis thaliana | I399 | FLPVTIPHATT | 1 | Mus musculus | I399 | FLPVTLPHATT | 1 | Rattus norvegicus | I462 | ASSVMIFSVGK | 2 | Mus musculus, Rattus norvegicus | I462 | TSRVMIFSVGK | 1 | Homo sapiens | I462 | DFELIPFGAGR | 1 | Arabidopsis thaliana | I471 | GKRRCIGEELS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I471 | GRRICAGLSLG | 1 | Arabidopsis thaliana | L264 | REFEQLNRNFS | 1 | Homo sapiens | L264 | GKMKRLHKRFD | 1 | Arabidopsis thaliana | L264 | RKFEQLNRNFS | 1 | Mus musculus | L264 | REFEQINRNFS | 1 | Rattus norvegicus | L335 | ASQDTLSTALL | 2 | Mus musculus, Rattus norvegicus | L335 | ASQDTLSTALQ | 1 | Homo sapiens | L335 | AGTDTSASTVD | 1 | Arabidopsis thaliana | L480 | LSKMQLFLFIS | 1 | Homo sapiens | L480 | LGLRTIQFLTA | 1 | Arabidopsis thaliana | L480 | LSKMLLFLFIS | 1 | Mus musculus | L480 | LSKTLLFLFIS | 1 | Rattus norvegicus | L509 | S--YGLTI-KP | 2 | Homo sapiens, Mus musculus | L509 | EESYGLTLQRA | 1 | Arabidopsis thaliana | L509 | S--YGLSI-KP | 1 | Rattus norvegicus | M132 | -GGRSLAFGHY | 2 | Mus musculus, Rattus norvegicus | M132 | -GGRSMAFGHY | 1 | Homo sapiens | M132 | YNYQDLVFAPY | 1 | Arabidopsis thaliana | M152 | AAHSMMRNFFT | 1 | Homo sapiens | M152 | I--SSVHLFSA | 1 | Arabidopsis thaliana | M152 | SAYSTMRAFST | 1 | Mus musculus | M152 | AAYGTMRAFST | 1 | Rattus norvegicus | N228 | ELLSHNEEFGR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N228 | SMVTEMMALAG | 1 | Arabidopsis thaliana | Q424 | VVFVNQWSVNH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q424 | TLLTNIWAIAR | 1 | Arabidopsis thaliana | R145 | HWKVQRRAAHS | 1 | Homo sapiens | R145 | RWRLLRKI--S | 1 | Arabidopsis thaliana | R145 | HWKTQRRSAYS | 1 | Mus musculus | R145 | RWKERRRAAYG | 1 | Rattus norvegicus | R468 | FSVGKRRCIGE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R468 | FGAGRRICAGL | 1 | Arabidopsis thaliana | S331 | DIFGASQDTLS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S331 | NMFTAGTDTSA | 1 | Arabidopsis thaliana | S464 | SVMIFSVGKRR | 2 | Mus musculus, Rattus norvegicus | S464 | RVMIFSVGKRR | 1 | Homo sapiens | S464 | ELIPFGAGRRI | 1 | Arabidopsis thaliana | S476 | IGEELSKMQLF | 1 | Homo sapiens | S476 | AGLSLGLRTIQ | 1 | Arabidopsis thaliana | S476 | IGEELSKMLLF | 1 | Mus musculus | S476 | IGEELSKTLLF | 1 | Rattus norvegicus | T334 | GASQDTLSTAL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T334 | TAGTDTSASTV | 1 | Arabidopsis thaliana | T398 | SFVPVTIPHAT | 1 | Homo sapiens | T398 | PPTPLSLPHIA | 1 | Arabidopsis thaliana | T398 | SFLPVTIPHAT | 1 | Mus musculus | T398 | SFLPVTLPHAT | 1 | Rattus norvegicus | V395 | RFSSFVPVTIP | 1 | Homo sapiens | V395 | RLHPPTPLSLP | 1 | Arabidopsis thaliana | V395 | RFSSFLPVTIP | 1 | Mus musculus | V395 | RFTSFLPVTLP | 1 | Rattus norvegicus | W141 | HYSEHWKVQRR | 1 | Homo sapiens | W141 | PYGHRWRLLRK | 1 | Arabidopsis thaliana | W141 | HYSEHWKTQRR | 1 | Mus musculus | W141 | HYSERWKERRR | 1 | Rattus norvegicus |
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